11-59124377-C-G
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_198947.4(FAM111B):c.280C>G(p.Arg94Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000297 in 1,613,588 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R94C) has been classified as Benign.
Frequency
Consequence
NM_198947.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FAM111B | NM_198947.4 | c.280C>G | p.Arg94Gly | missense_variant | 4/4 | ENST00000343597.4 | |
FAM111B | NM_001142703.2 | c.190C>G | p.Arg64Gly | missense_variant | 3/3 | ||
FAM111B | NM_001142704.2 | c.190C>G | p.Arg64Gly | missense_variant | 2/2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FAM111B | ENST00000343597.4 | c.280C>G | p.Arg94Gly | missense_variant | 4/4 | 1 | NM_198947.4 | P2 |
Frequencies
GnomAD3 genomes ? AF: 0.0000263 AC: 4AN: 152004Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000678 AC: 17AN: 250842Hom.: 0 AF XY: 0.000103 AC XY: 14AN XY: 135570
GnomAD4 exome AF: 0.0000294 AC: 43AN: 1461466Hom.: 0 Cov.: 32 AF XY: 0.0000413 AC XY: 30AN XY: 727022
GnomAD4 genome ? AF: 0.0000329 AC: 5AN: 152122Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74374
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jun 06, 2023 | The c.280C>G (p.R94G) alteration is located in exon 4 (coding exon 2) of the FAM111B gene. This alteration results from a C to G substitution at nucleotide position 280, causing the arginine (R) at amino acid position 94 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at